Skip Navigation

Laura Ranum, PhD

flower close-up

Laura Ranum, PhD

University of Florida

Molecular Genetics of the G4C2 expansion mutation in ALS/FTD

A novel form of amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD) was recently shown to be caused by a DNA mutation in which six letters of the genetic code “GGGGCC” are repeated extra times. This discovery links ALS/FTD with a large group of other neurological diseases caused by similar repeat expansion mutations (e.g. CAG, CTG, CCTG), which is particularly exciting because lessons learned over the past 20 years from studying these other diseases are likely to be relevant to the more common ALS/FTD. My laboratory has followed a family with ALS for more than 20 years and recently discovered that this family has the GGGGCC expansion mutation. We have cloned the repeat expansion mutation from a member of this family and propose a series of experiments, including the generation of a mouse model to better understand how this expansion mutation causes disease.

Note: This project is made possible through a collaboration with the ALS Association.

 

return to project list

Steven Finkbeiner

Our Experts

Gladstone Institutes, UCSF
Two recently discovered genes that have been associated with both familial and sporadic forms of ALS encode the related proteins TDP43 and FUS cause neuron death in ALS.
Meet Our Experts